Canonical Allele Identifier: CA2615862433

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108332898-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332899_108332900del , CM000673.2:g.108332899_108332900del	GRCh38
NC_000011.9:g.108203626_108203627del , CM000673.1:g.108203626_108203627del	GRCh37
NC_000011.8:g.107708836_107708837del	NCBI36
NG_009830.1:g.115068_115069del , LRG_135:g.115068_115069del
NG_054724.1:g.141933_141934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7926_7927del (ATM)	ENSP00000388058.2:p.Lys2643ArgfsTer12
ENST00000713593.1:c.*7397_*7398del (ATM)	ENSP00000518889.1:n.*7397_*7398del
ENST00000278616.9:c.7926_7927del (ATM)	ENSP00000278616.4:p.Lys2643ArgfsTer12
ENST00000525056.2:n.2345_2346del (ATM)
ENST00000525537.3:n.1607_1608del (ATM)
ENST00000638786.2:n.625+862_625+863del (ATM)
ENST00000682286.1:n.2683_2684del (ATM)
ENST00000682302.1:n.2344_2345del (ATM)
ENST00000683174.1:n.9410_9411del (ATM)
ENST00000683524.1:n.3150_3151del (ATM)
ENST00000684152.1:n.3344-987_3344-986del (ATM)
ENST00000684180.1:n.400_401del (ATM)
ENST00000684447.1:n.3434_3435del (ATM)
ENST00000527805.6:c.*2990_*2991del (ATM)	ENSP00000435747.2:n.*2990_*2991del
ENST00000675595.1:c.*3061_*3062del (ATM)	ENSP00000502563.1:n.*3061_*3062del
ENST00000675843.1:c.7926_7927del (ATM) MANE Select	ENSP00000501606.1:p.Lys2643ArgfsTer12
ENST00000278616.8:c.7926_7927del (ATM)	ENSP00000278616.4:p.Lys2643ArgfsTer12
ENST00000452508.6:c.7926_7927del (ATM)	ENSP00000388058.2:p.Lys2643ArgfsTer12
ENST00000524755.5:c.300-1333_300-1332del (C11orf65)
ENST00000524792.5:n.4141_4142del (ATM)
ENST00000525056.1:n.123_124del (ATM)
ENST00000525729.5:c.641-23829_641-23828del (C11orf65)	ENSP00000433395.1:n.641-23829_641-23828del
ENST00000527531.5:c.*1270-1333_*1270-1332del (C11orf65)	ENSP00000431706.1:n.*1270-1333_*1270-1332del
ENST00000533690.5:n.3330_3331del (ATM)
ENST00000533979.5:n.138_139del (ATM)
ENST00000615746.4:c.*1270-1333_*1270-1332del (C11orf65)	ENSP00000483537.1:n.*1270-1333_*1270-1332del
NM_000051.3:c.7926_7927del , LRG_135t1:c.7926_7927del (ATM)	NP_000042.3:p.Lys2643ArgfsTer12
XM_005271414.3:c.*39-1333_*39-1332del (C11orf65)	XP_005271471.1:n.*39-1333_*39-1332del
XM_005271415.3:c.805-1333_805-1332del (C11orf65)	XP_005271472.1:n.805-1333_805-1332del
XM_005271561.3:c.7926_7927del (ATM)	XP_005271618.2:p.Lys2643ArgfsTer12
XM_005271562.3:c.7926_7927del (ATM)	XP_005271619.2:p.Lys2643ArgfsTer12
XM_006718843.2:c.7926_7927del (ATM)	XP_006718906.1:p.Lys2643ArgfsTer12
XM_006718845.1:c.3882_3883del (ATM)	XP_006718908.1:p.Lys1295ArgfsTer12
XM_011542840.1:c.7926_7927del (ATM)	XP_011541142.1:p.Lys2643ArgfsTer12
XM_011542841.1:c.7926_7927del (ATM)	XP_011541143.1:p.Lys2643ArgfsTer12
XM_011542842.1:c.7761_7762del (ATM)	XP_011541144.1:p.Lys2588ArgfsTer12
XM_011542843.1:c.7926_7927del (ATM)	XP_011541145.1:p.Lys2643ArgfsTer12
XM_011542844.1:c.6882_6883del (ATM)	XP_011541146.1:p.Lys2295ArgfsTer12
XM_011542845.1:c.6618_6619del (ATM)	XP_011541147.1:p.Lys2207ArgfsTer12
XM_011542847.1:c.2997_2998del (ATM)	XP_011541149.1:p.Lys1000ArgfsTer12
NM_001330368.1:c.641-23829_641-23828del (C11orf65)	NP_001317297.1:n.641-23829_641-23828del
NM_001351110.1:c.*38+2320_*38+2321del (C11orf65)	NP_001338039.1:n.*38+2320_*38+2321del
NM_001351834.1:c.7926_7927del (ATM)	NP_001338763.1:p.Lys2643ArgfsTer12
NR_147053.2:n.2375-1333_2375-1332del (C11orf65)
XM_005271414.4:c.*39-1333_*39-1332del (C11orf65)	XP_005271471.1:n.*39-1333_*39-1332del
XM_005271415.4:c.805-1333_805-1332del (C11orf65)	XP_005271472.1:n.805-1333_805-1332del
XM_005271562.5:c.7926_7927del (ATM)	XP_005271619.2:p.Lys2643ArgfsTer12
XM_006718843.4:c.7926_7927del (ATM)	XP_006718906.1:p.Lys2643ArgfsTer12
XM_006718845.2:c.3882_3883del (ATM)	XP_006718908.1:p.Lys1295ArgfsTer12
XM_011542840.3:c.7926_7927del (ATM)	XP_011541142.1:p.Lys2643ArgfsTer12
XM_011542842.3:c.7761_7762del (ATM)	XP_011541144.1:p.Lys2588ArgfsTer12
XM_011542843.2:c.7926_7927del (ATM)	XP_011541145.1:p.Lys2643ArgfsTer12
XM_011542844.3:c.6882_6883del (ATM)	XP_011541146.1:p.Lys2295ArgfsTer12
XM_011542845.2:c.6618_6619del (ATM)	XP_011541147.1:p.Lys2207ArgfsTer12
XM_017017789.2:c.7926_7927del (ATM)	XP_016873278.1:p.Lys2643ArgfsTer12
XM_017017790.2:c.7926_7927del (ATM)	XP_016873279.1:p.Lys2643ArgfsTer12
NM_001330368.2:c.641-23829_641-23828del (C11orf65)	NP_001317297.1:n.641-23829_641-23828del
NM_001351110.2:c.*38+2320_*38+2321del (C11orf65)	NP_001338039.1:n.*38+2320_*38+2321del
NM_001351834.2:c.7926_7927del (ATM)	NP_001338763.1:p.Lys2643ArgfsTer12
NM_000051.4:c.7926_7927del (ATM) MANE Select	NP_000042.3:p.Lys2643ArgfsTer12
NR_147053.3:n.2373-1333_2373-1332del (C11orf65)